Incidental Mutation 'IGL01624:Or6c69c'
ID 92636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c69c
Ensembl Gene ENSMUSG00000058251
Gene Name olfactory receptor family 6 subfamily C member 69C
Synonyms MOR113-2, Olfr822, GA_x6K02T2PULF-11745102-11746040
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL01624
Quality Score
Status
Chromosome 10
Chromosomal Location 129910281-129911219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129910519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 80 (L80H)
Ref Sequence ENSEMBL: ENSMUSP00000150652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080460] [ENSMUST00000216879]
AlphaFold Q8VFU1
Predicted Effect probably damaging
Transcript: ENSMUST00000080460
AA Change: L80H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079316
Gene: ENSMUSG00000058251
AA Change: L80H

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 1.1e-49 PFAM
Pfam:7tm_1 39 288 9.3e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216879
AA Change: L80H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,341,205 (GRCm39) T18I probably damaging Het
Acod1 A G 14: 103,292,669 (GRCm39) T398A probably benign Het
Adgrl2 A G 3: 148,542,163 (GRCm39) V853A probably damaging Het
Ankhd1 T C 18: 36,791,066 (GRCm39) S2488P probably damaging Het
Ankrd28 T C 14: 31,432,814 (GRCm39) I578V probably benign Het
Atp2c2 A C 8: 120,484,189 (GRCm39) R933S probably benign Het
Cyp26a1 A T 19: 37,686,781 (GRCm39) I78F possibly damaging Het
Gck A G 11: 5,853,106 (GRCm39) V338A possibly damaging Het
Ints6 A T 14: 62,934,320 (GRCm39) M729K probably benign Het
Kank2 C A 9: 21,691,676 (GRCm39) G500W probably damaging Het
Kansl1 G A 11: 104,315,378 (GRCm39) T220I probably benign Het
Lgi4 T C 7: 30,767,113 (GRCm39) L380P probably damaging Het
Lhx9 G T 1: 138,760,521 (GRCm39) Y276* probably null Het
Lipm T A 19: 34,098,545 (GRCm39) Y340N probably damaging Het
Mlxip A G 5: 123,533,392 (GRCm39) T134A probably benign Het
Nwd2 A T 5: 63,964,153 (GRCm39) I1246F probably damaging Het
Or14j3 A T 17: 37,900,816 (GRCm39) W143R probably benign Het
Or8h9 A G 2: 86,789,574 (GRCm39) V76A probably benign Het
Rbm44 T A 1: 91,084,380 (GRCm39) N601K probably damaging Het
Rgs4 T A 1: 169,572,047 (GRCm39) Y84F probably benign Het
Scn7a T C 2: 66,582,269 (GRCm39) T131A probably benign Het
Slc34a1 A G 13: 23,998,969 (GRCm39) I121V probably benign Het
Slitrk5 T A 14: 111,918,526 (GRCm39) Y717N probably damaging Het
Sox6 A G 7: 115,076,203 (GRCm39) S770P probably damaging Het
Spata31 T C 13: 65,069,399 (GRCm39) W516R probably damaging Het
Sugt1 A G 14: 79,834,230 (GRCm39) N77S probably benign Het
Sumf1 C T 6: 108,130,162 (GRCm39) D186N probably damaging Het
Syde2 T C 3: 145,712,790 (GRCm39) L709S probably damaging Het
Tcp1 T A 17: 13,138,812 (GRCm39) I163K probably benign Het
Upf2 A T 2: 6,038,990 (GRCm39) E287D probably benign Het
Usp17lb A G 7: 104,491,720 (GRCm39) probably benign Het
Vmn2r10 G A 5: 109,154,112 (GRCm39) S64F possibly damaging Het
Other mutations in Or6c69c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01975:Or6c69c APN 10 129,911,139 (GRCm39) missense probably damaging 1.00
IGL02354:Or6c69c APN 10 129,911,143 (GRCm39) missense probably damaging 1.00
IGL02361:Or6c69c APN 10 129,911,143 (GRCm39) missense probably damaging 1.00
IGL03184:Or6c69c APN 10 129,910,627 (GRCm39) missense possibly damaging 0.82
IGL03197:Or6c69c APN 10 129,910,548 (GRCm39) missense probably damaging 0.99
IGL03343:Or6c69c APN 10 129,911,125 (GRCm39) missense probably damaging 1.00
R0310:Or6c69c UTSW 10 129,910,692 (GRCm39) missense probably benign 0.00
R1288:Or6c69c UTSW 10 129,911,154 (GRCm39) missense probably damaging 1.00
R1502:Or6c69c UTSW 10 129,910,741 (GRCm39) missense probably damaging 0.97
R1527:Or6c69c UTSW 10 129,911,061 (GRCm39) missense probably damaging 1.00
R3771:Or6c69c UTSW 10 129,911,143 (GRCm39) missense probably damaging 1.00
R5022:Or6c69c UTSW 10 129,910,462 (GRCm39) missense probably damaging 1.00
R5472:Or6c69c UTSW 10 129,910,898 (GRCm39) missense probably damaging 0.97
R5552:Or6c69c UTSW 10 129,911,014 (GRCm39) missense probably damaging 0.99
R6451:Or6c69c UTSW 10 129,911,007 (GRCm39) missense probably benign 0.01
R6986:Or6c69c UTSW 10 129,911,199 (GRCm39) missense possibly damaging 0.63
R8101:Or6c69c UTSW 10 129,910,875 (GRCm39) missense probably benign
R8468:Or6c69c UTSW 10 129,910,303 (GRCm39) missense probably benign 0.03
R8785:Or6c69c UTSW 10 129,910,485 (GRCm39) missense probably benign 0.01
R8988:Or6c69c UTSW 10 129,910,522 (GRCm39) missense possibly damaging 0.95
R9083:Or6c69c UTSW 10 129,910,969 (GRCm39) missense probably benign
R9083:Or6c69c UTSW 10 129,910,941 (GRCm39) missense probably benign
R9084:Or6c69c UTSW 10 129,910,969 (GRCm39) missense probably benign
R9084:Or6c69c UTSW 10 129,910,941 (GRCm39) missense probably benign
R9366:Or6c69c UTSW 10 129,911,067 (GRCm39) nonsense probably null
R9773:Or6c69c UTSW 10 129,910,360 (GRCm39) missense possibly damaging 0.65
X0024:Or6c69c UTSW 10 129,910,594 (GRCm39) missense probably damaging 0.99
Z1176:Or6c69c UTSW 10 129,910,973 (GRCm39) missense probably benign 0.06
Posted On 2013-12-09